Introduction: An enlarged utricle in patients with proximal hypospadias or disorders of sex development (DSD) is common. The utricle orifice is usually in the posterior urethra near the verumontanum, but in exceptional cases located on the perineum. Concurrence of a perineal hypospadias and perineal utricle or vagina is also known as male vagina, pseudovagina, or blind vaginal pouch. The utricle in such cases is usually excised either before or concomitant with hypospadias repair. The authors developed an alternative approach in which the vagina or perineal utricle is retained during hypospadias repair and report on the results in four patients. Objective: To report a novel technique for perineal hypospadias repair while retaining a concurrent vagina or perineal utricle. Patients and methods: Between 1999 and 2014, four neonates presented with perineal hypospadias. In all patients, a second perineal opening providing access to either an enlarged utricle or a vagina was identified. Karyotype in peripheral blood was in two patients 46,XY and in the other two 45,X/46,XY of which one showed a complex mosaicism in gonadal tissue. No genetic cause was identified on DNA evaluation in the two patients with 46,XY DSD. All patients were raised as boys. Hypospadias repair was performed in two stages at prepubertal age. During the second stage of surgery, performed between the age of 1.5 and 5 years, the vagina or utricle orifice was incorporated into the neo-urethra, resulting in a retained ‘built-in’ vagina or utricle. Results: Surgical procedures were uneventful, and patients remained asymptomatic during a mean postoperative follow-up of 8.5 (range 2–13.5) years. One patient was lost to follow-up after the age of 8 years. At their last visit, the remaining patients, at the age of 4, 15, and 17 years, were able to void in standing position without dribbling. Both adolescent patients reported erections without ejaculations and identified themselves as males without signs of gender dysphoria. Conclusion: Hypospadias repair in boys with perineal hypospadias while leaving a male vagina or perineal utricle in situ has not been reported previously, and the study's preliminary results are favorable. One of the benefits of this approach is that inadvertent injury to adjacent anatomic structures such as urethral sphincter, neurovascular bundles, ureters, vas deferens, and rectum is avoided. The main rationale for adopting this conservative approach however is to minimize genital tissue removal in children with a not yet definite gender identity, which will certainly facilitate unforeseen future gender reassignment surgery.[Figure presented]

Additional Metadata
Keywords Differences of sex development, DSD, Enlarged utricle, Gender change, Male vagina, Perineal hypospadias
Persistent URL dx.doi.org/10.1016/j.jpurol.2019.09.002, hdl.handle.net/1765/119980
Journal Journal of Pediatric Urology
Citation
Wolffenbuttel, K.P, & Holmdahl, G. (Gundela). (2019). Perineal hypospadias repair with preservation of a coincidental vagina or perineal utricle in boys with disorders of sex development. Journal of Pediatric Urology. doi:10.1016/j.jpurol.2019.09.002